This study examined a gene therapy (gene transfer) in children with X-linked severe combined immunodeficiency (SCID-X1). It enrolled boys diagnosed in the first year of life who had no suitable bone marrow donor and had severe infections. It was carried out in Phase 1/Phase 2 and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion criteria : * Boys diagnosed during the first year of life * Diagnosis of classical SCID-X1 based on immunophenotype (absent, or reduced numbers of non-functional T lymphocytes) and confirmed by DNA sequencing * No HLA identical family donor and no HLA identical unrelated donor (10/10 antigens) found in the 6 weeks following the beginning of the search. This period could be shortened if the probability to find a donor is low or if the clinical situation (gravity) required * Presence of a severe infection: pneumonitis and / or chronic diarrhea, or infection with herpes viruses or parainfluenza type 3 or adenovirus, or disseminated BCG infection, or presence of severe diarrhea and a severe compromise of the general state with denutrition * Or failure of a HLA HAPLO-identical bone marrow transplant within 10 years after transplantation * In all cases: * No family background of cancer in childhood. * No cytogenetic abnormalities (medullary karyotype) and no detection of main rearrangements associated with acute leukemia of children * Parental/guardian voluntary consent Exclusion criteria : * Atypical health with autologous T\> 500/ml3 * Infection by HIV 1 or 2 * Allogeneic HSC completed (excluding situations of failure) * Existence of an HLA identical family donor or HLA identical unrelated donor * No severe infections in a child with a preserved general state * Family background of cancer in childhood * Detection of cytogenetic abnormality and / or rearrangement associated with acute leukemia of children * No affiliation to a social security scheme (beneficiary or assignee)